Zobrazeno 1 - 3
of 3
pro vyhledávání: '"Miriam Ostrozovičová"'
Autor:
Alexandra Lackova, Christian Beetz, Sebastian Oppermann, Peter Bauer, Petra Pavelekova, Tatiana Lorincova, Miriam Ostrozovicova, Kristina Kulcsarova, Jana Cobejova, Martin Cobej, Petra Levicka, Simona Liesenerova, Daniela Sendekova, Viktoria Sukovska, Zuzana Gdovinova, Vladimir Han, Mie Rizig, Henry Houlden, Matej Skorvanek
Publikováno v:
Parkinson's Disease, Vol 2022 (2022)
Background. An increased prevalence of Parkinson’s disease (PD) disease has been previously reported in subjects with Fabry disease (FD) carrying alpha-galactosidase (GLA) mutations and their first-line relatives. Moreover, decreased alpha-galactos
Externí odkaz:
https://doaj.org/article/735f7ce759224bf6b7c29b9c1c8373fb
Autor:
Ján Necpál, Susanne A. Schneider, Martin Krenn, Alice Kuster, Wibke G. Janzarik, Sylvia Boesch, Olga Ulmanová, Joaquim Ribeiro Ventosa, Riccardo Berutti, Steffen Berweck, Matej Skorvanek, Vladimír Haň, Matias Wagner, Miriam Ostrozovičová, Jana Švantnerová, Juliane Winkelmann, Bernhard Haslinger, Petra Havránková, Tereza Serranová, Ariane Sadr-Nabavi, Friederike Wilbert, Mohammad Shariati, Kristina Kulcsarova, Irena Rektorová, Felix Distelmaier, Konrad Oexle, Ali Shoeibi, Robert Jech, Michael Zech, Matthias Eckenweiler, Karel Bechyně, Theresa Brunet, Matthias Baumann, Alexandra Mosejova, Volker Mall, Iva Příhodová, David R. Weise, Jana Šarláková
Publikováno v:
Mov. Disord. 36, 959-1964 (2021)
Background Despite the established value of genomic testing strategies, practice guidelines for their use do not exist in many indications. Objectives We sought to validate a recently introduced scoring algorithm for dystonia, predicting the diagnost
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e2e2e8e17774a6d73e9bbc1f2690da05
https://pubmed.ncbi.nlm.nih.gov/33949708
https://pubmed.ncbi.nlm.nih.gov/33949708
Autor:
Matej Skorvanek, Petra Havránková, Tereza Serranová, Ariane Sadr-Nabavi, Tim M. Strom, Alexandra Mosejova, Olga Ulmanová, Kristina Kulcsarova, Irena Rektorová, Karel Bechyně, Mohammad Shariati, Ali Shoeibi, Jana Šarláková, Iva Příhodová, Sylvia Boesch, Riccardo Berutti, Sandrina Weber, Jana Švantnerová, Volker Mall, Juliane Winkelmann, Vladimír Haň, Matias Wagner, Claudia Trenkwalder, Miriam Ostrozovičová, Brit Mollenhauer, Bernhard Haslinger, Shahzaman Ganai, Joaquim Ribeiro Ventosa, Yasemin Dincer, Michael Zech, Andres O. Ceballos-Baumann, Ján Necpál, Robert Jech
Publikováno v:
Parkinsonismrelated disorders. 84
Introduction Next-generation sequencing is now used on a routine basis for molecular testing but studies on copy-number variant (CNV) detection from next-generation sequencing data are underrepresented. Utilizing an existing whole-exome sequencing (W
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6333579ae77e592408369d5afabf624e
https://pubmed.ncbi.nlm.nih.gov/33611074
https://pubmed.ncbi.nlm.nih.gov/33611074